Multicolored MIS-C, a single-centre cohort study.

Background: The aim of this study was to investigate the clinical and laboratory parameters that can predict the severity of Multisystem Inflammatory Syndrome in Children (MIS-C) at admission.

Methods: We conducted a single-center, partly retrospective, partly prospective, observational cohort study between November 1, 2020 and December 31, 2021, which included patients aged from 1 month to 19 years, meeting the diagnostic criteria of MIS-C. We categorized the patients into three subgroups based on clinical and laboratory markers and assessed the predictive value of these factors in terms of ICU administration and cardiac abnormalities.

Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.

Congenital heart diseases (CHDs) are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors contribute to the disease. Recurrent copy number variants (CNVs) have been reported in the pathogenesis of CHD.

Does the prophylactic and therapeutic use of beta-blockers in preoperative patients with tetralogy of Fallot significantly prevent and treat the occurrence of cyanotic spells?

A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was 'Does the use of beta-blockers significantly prevent and treat the occurrence of cyanotic spells in preoperative infants with tetralogy of Fallot?' Altogether, 80 papers were found using the reported search, of which 6 represented the best evidence to answer the clinical question. The author, journal, date, country of publication, patient group studied, study type, relevant outcomes and results of these papers are tabulated.

[Support in diagnostics and therapy].

There is no proven effective treatment for many diseases today that proves to be one of the greatest problems of health care. Therefore, different therapeutic decisions are made in connection with the same disease by hospitals. There is a growing need for reviews which summarize the information collected from professional literature with scientific methods.

Pediatric myocarditis: A sentinel of non-cardiac chronic diseases?

Introduction: Although long-term outcome studies in large pediatric myocarditis/cardiomyopathy populations have been reported in literature, none of them focused on comorbidities.

Methods: All children and adolescents (age <18 years) treated with myocarditis at the Department of Pediatrics, University of Debrecen, Hungary were followed. Patients suffering from myocarditis during the period 1996-2011 were enrolled.

[Deletion 15q26 syndrome].

The association of short stature, microcephaly, congenital cardiac anomaly and intellectual deficit should always raise the suspicion of chromosomal etiology. If G-banded karyotyping fails to detect large chromosomal aberrations, array comparative genomic hybridization (array CGH) should be performed to screen for submicroscopic pathological copy number changes. The authors present a six-year-old girl whose symptoms arose from a 4.

Measuring health-related quality of life in Hungarian children with heart disease: psychometric properties of the Hungarian version of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales and the Cardiac Module.

Objectives: The aim of the study was to investigate the psychometric properties of the Hungarian version of the Pediatric Quality of Life Inventory (PedsQL) Generic Core Scales and Cardiac Module.

Methods: The PedsQL 4.0 Generic Core Scales and the PedsQL 3.

Measuring health-related quality of life in Hungarian children attending a cardiology clinic with the Pediatric Quality of Life Inventory.

The aim of the study was to evaluate health-related quality of life (HRQoL) of Hungarian children attending a pediatric cardiology outpatient unit with the Pediatric Quality of Life Inventory (PedsQL) questionnaire. The PedsQL Generic Core Scales and Cardiac Module were administered to 254 families including 195 children during a pediatric cardiology outpatient visit, and 525 families including 373 children from the general population were examined by the PedsQL Generic Core Scale by a postal survey. The relationships between PedsQL scores and patient characteristics were analyzed.

[In utero thrombosis of neonates: inherited thrombophilia?].

Thromboembolic events are relatively uncommon in childhood. It involves mainly children under one year of age and adolescents, with an incidence is 5.1/10000 live births.

[Hungarian validation of the cardiac module of the Pediatric Quality of Life Inventory].

Unlabelled: The authors report the validation process of the cardiac module of the Pediatric Quality of Life Inventory (PedsQL ) into Hungarian.

Background: The PedsQL which is a modular instrument to evaluate health-related quality of life (HRQL ) in children and adolescents of ages 2-18 years, comes up to the current professional requirements at a high level. There is no report on health-related quality of life measure in Hungary which was performed among children with heart disease.

[Quality-of-life measures in pediatric cardiology].

Unlabelled: The need of outcome measures from the patients' aspect emerges reasonably in the field of rapidly developing pediatric cardiac surgery and pediatric cardiology. The professional standards and the possibilities of applicability of quality of life measures are often unknown for medical doctors. This is particularly true in pediatrics due to the numerous difficulties of pediatric measures and--in consequence--to the lower number of correct investigations.

[Principles of quality of life measurement and its application in childhood].

Background: The evaluative and critical analysis of articles on the quality of life which appear in growing number in the medical literature, and the adaptation of the measures to clinical practice can be realised only through knowledge of the professional standards of the measuring methods.

Objective: To outline the most widely accepted definitions of life- and health-related quality of life, to define the application possibilities as well as the parameters of the measuring methods. To demonstrate the most common problems as well as the possibilities of implementing pediatric measures.

[Molecular pathology and clinical manifestations of Fabry disease].

Fabry disease is a rare, progressive lysosomal storage disorder caused by mutation in the GAL gene and an impaired function of the alpha-galactosidase A enzyme. The enzymatic defect results in the progressive accumulation of glycosphingolipids in endothelial cells, smooth muscle cells, leucocytes and fibroblasts leading to organ damage in the skin, eye, nervous system, kidney and heart. Major clinical manifestations include acroparesthesis, angiokeratoma, corneal opacities, vascular diseases of the heart, kidney, and the central nervous system.

[Critical appraisal of articles about clinical audit].

Objective: To summarize the most important criteria used in critical appraisal of publications about clinical audit by the review of the relevant English language literature.

Methods: Electronic databases, including Medline, Science Direct, and Ingenta Select, and Internet search were used to find relevant English language publication between 1985 and 2005. Hand search and the reference lists search for publications were also applied.

The application of a simplified system of criterions for audit to improve paediatric cardiologic and paediatric cardiac surgical care: evidence from a regional approach in Hungary.

Aims: To evaluate the quality of cardiac and surgical care provided for children with congenital cardiac malformations in the eastern county of Hungary.

Methods: We used the method of clinical audit based in selection of criterions, developing five such criterions concerning timely diagnosis, access to treatment, and outcome. To examine compliance with these criterions, we analysed retrospectively the routine data relating to children living in Hajdu-Bihar County.

[Practice pattern and geographic variation in test ordering. A literature review].

Objective: To review the available research results in order to identify evidence about geographical variation and practice variation in primary care in the diagnostic test ordering.

Methods: Electronic databases, Medline, Cochrane Library, Science Direct, and Ingenta Select were used to find relevant English language publication between 1989 and 2004. Hand search and the reference lists search for publications were also applied.

[The role of clinical audit in the quality improvement of health care].

The aim of clinical audit is continuous improvement of the quality of care through systematic and critical review of current practice against explicit criteria and the implementation of change if necessary. The audit is a regular multidisciplinary activity by which all participants of care including doctors, nurses and other health professionals carry out a systematic review of their own practice. Data collected during the process of audit should be handled with care, and individual data concerning care-givers, patients or health professionals must be treated confidentially.

Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families.

In two non-consanguineous Hungarian Roma (Gypsy) children who presented with cardiomyopathy and decreased plasma carnitine levels, we identified homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2 carnitine transporter. Carnitine treatment resulted in dramatic improvement of the cardiac symptoms, echocardiographic, and EKG findings in both cases. Family investigations revealed four sudden deaths, two of them corresponded to the classic SIDS phenotype.